Congenital Insensitivity to Pain with Anhidrosis: a Miracle or a Curse?

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  • Topic: Congenital insensitivity to pain with anhidrosis, Congenital insensitivity to pain, Pain
  • Pages : 6 (939 words )
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  • Published : February 9, 2010
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Have you ever wondered what life would be like without physical pain? Would life be

more peaceful? Would we be more aggressive or would we possibly be incapable of enjoying the

pleasures of life? We may think we are better off without pain but “Pain is simply our intrinsic

medical adviser to warn us and stimulate us” (H.G. Wells, The Island of Dr. Moreau). Some

people have been able to experience this anomaly, the ability to be incapable of experiencing any

physical pain. These people are proven examples that pain is in fact necessary. Without pain one

can never truly discover their body’s physical limits and may against their knowledge inflict a

great deal of pain upon themselves.

People with the inability to feel pain have the disease called Congenital Insensitivity to

Pain with Anhidrosis (CIPA). CIPA is categorized as a Hereditary Sensory and Autonomic

Neuropathic disease. Congenital Insensitivity to pain is the inability to feel uneasy sensations

pertaining to an individual from birth. Anhidrosis is the inability to sweat thus causing the

incapability to regulate body temperature.

HSAN type IV is a genetic disorder caused by multiple DNA mutations. These mutations

occur on the neuropathic tyrosine kinase receptor types one (ntrk1 gene). In normal people the

NGR (neuropathic gene receptor) stimulates the growth support and the survival of the

autonomic sympathetic neurons as well as nociceptive sensory neurons, which transmit pain

sensations to the spinal cord and the brain. Mutations occur in portions of the gene that encode

the intracellular and extracellular domain of the protein, which may affect the variability in

presentation.

Hereditary Sensory and Autonomic Neuropathic (HSAN) type IV causes Congenital

Insensitivity to Pain with Anhidrosis. HSAN IV is the second most common type of HSAN.

CIPA symptoms normally manifest at an early age, but can be difficult to diagnose. Infants with

CIPA rarely cry from normal ailments, such as not crying when hungry as they cannot sense

hunger and they can sleep soundly throughout the night as they cannot sense their needs that

need to be met. Parents believe it to be a blessing that their child doesn’t cry until other onset

symptoms occur. These symptoms include unexplained fevers, self-mutilation, and

developmental delay. When teething children often chew on anything they can, but since

children with CIPA don’t realise the pain of biting themselves, teething becomes dangerous.

Many CIPA children begin to bite off their own tongue and fingers when teething; often ripping

out their own teeth as well. Around this time, parents begin to realise that these symptoms are

not normal for children.

People with CIPA can’t live a normal life because of the many unfortunate ailments

caused by the disease. Hyperactivity is a common characteristic of children with CIPA, as is

being unable to differentiate between temperatures. Many children die early because it is very

easy for them to overheat as they cannot regulate their own body temperature. The lack of

sweating causes the skin to become thick and susceptible to skin infections and cellulitis. Their

bones deteriorate over a shorter period of time than normal bones. Their joints are overused

usually confining patients to a wheelchair (wheelchair bound). An infinite number of patients

develop appendicitis and die because they are unable to feel the pain that this would normally

cause. It is impossible to determine the number of CIPA patients, as there is quite a discrepancy

in the statistics.

Unfortunately, there is no cure for CIPA, and they are very few treatment options. Since

it is a rare disorder there hasn’t been a lot of research done on the topic. To regulate the body

temperature, some individuals with CIPA...
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